rs12681366
This variant is located in the RAD54B gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Cleft palate, cleft lip
▶Research that mentions this SNP (1)
▶Association between PTCH1 and RAD54B single‐nucleotide polymorphisms and non‐syndromic orofacial clefts in a northern Chinese populationAssociationN=1,062Xiaotong Liu et al.(2018)· The Journal of Gene Medicine
This case-control association study examined six SNPs (rs10512248 in PTCH1, rs12681366 and rs958447 in RAD54B, rs13317 in FGFR1, rs1838105 and rs4968247 in WNT9B) in 596 NSOC patients and 466 controls from a Northern Chinese population. Two SNPs showed significant associations with non-syndromic orofacial clefts: PTCH1 rs10512248 (P=0.020) and RAD54B rs12681366, where the CT genotype showed decreased NSOC risk (OR=0.62, 95%CI=0.46-0.82, P=0.001). This replication study confirms GWAS findings in a Northern Chinese population and suggests RAD54B rs12681366 plays a protective role against orofacial clefts.
About RAD54B
The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
View all RAD54B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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